Analyse de la trisomie 9p par d�naturation m�nag�e

Mo, Ran; Hoehn, Holger; Hd, Rott; Couturier, Jérôme; Dutrillaux, Bernard; Lejeune, J

doi:10.1007/bf00291480

Cited by 68 publications

(13 citation statements)

References 2 publications

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“…Partial trisomy 9 was first described by Rethoré et al [1973]. Since then more than 150 reports on patients with partial or complete trisomy 9 were published [Young et al, 1982;Annerén and Sedin, 1981].…”

Section: Discussionmentioning

confidence: 98%

Absence of 9q22-9qter in trisomy 9 does not prevent a Dandy-Walker phenotype

Kaisenberg

Caliebe

Krams³

et al. 2000

Am. J. Med. Genet.

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We report on a female fetus with partial trisomy 9 due to a reciprocal translocation in the mother. Routine ultrasound examination at 23 weeks showed hypoplasia of the cerebellar vermis, dilated foramen Magendii, and dilatation of the cisterna magna. Due to the poor prognosis, the parents opted for termination of pregnancy. A postmortem examination confirmed caudal hypoplasia and dysplasia of the cerebellar vermis, resulting in a massively dilated foramen Magendii through which the enlarged cisterna magna communicated with the fourth ventricle. There was also micropolygyria indicating migration disorder. Cytogenetic studies showed a 47,XX,+der(9)t(7;9) (q35;q22.2)mat karyotype. Investigation of the parents revealed a translocation (7;9) (q35;q22.2) in the mother and a normal male karyotype in the father. We systematically searched the chromosome 9 gene map for genes that were trisomic in our fetus and genes that were located on the regions that had the normal two copies of genes. Genes that could potentially be involved in the formation of the Dandy-Walker phenotype are transcription factors or genes responsible for the regulation of normal in particular cerebral development but also adhesion molecules. We conclude that one cause for Dandy-Walker malformation could be a gene dosage effect of genes located on 9pter-9q22. In addition, it seems that absence of trisomy 9 in q22-pter does not prevent abnormal cerebellar development.

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Section: Discussionmentioning

confidence: 98%

Absence of 9q22-9qter in trisomy 9 does not prevent a Dandy-Walker phenotype

Kaisenberg

Caliebe

Krams³

et al. 2000

Am. J. Med. Genet.

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“…Unlike the cases of trisomy for the whole chromosome, our case does not appear to have any cardiac abnormality. Rethore et al (1973) and Zaremba et al (1974) have reviewed the features of trisomy for the short arm of this chromosome. Further cases have been reported by Newton et al (1972), Baccichetti and Tenconi (1973), Podruch and Weisskopf (1974), Fujita et al (1974), and Dinno, Silvey, and Weisskopf (1974).…”

Section: Discussionmentioning

confidence: 99%

Pure partial trisomy for long arm of chromosome 9.

Faed¹,

Robertson²,

Brown³

et al. 1976

Journal of Medical Genetics

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“…In reference to the literature, it was evident that the breakpoint in the long arm of the chromosome no. 9 was reported on 2 cases in 9q1 (Weber et al 1975 ;Tanaka et al 1977), on 5 cases in 9g11 (Rethore et al 1973 ;Fuj ita et al 1976 ;Gustavson and Wahlstrom 1977;Archidiacono et al 1978;Habedank and Faust 1978), on 10 cases in 9g12 (Rethore et al 1973;Fuj ita et al 1974;Balicek et al 1975;Stoll et al 1975;Abe et al 1976;Faed et al 1976;Kaosaar et al 1976;Hernandez et al 1979;Herva and Koivisto 1979;Di Cesare 1980), on 13 cases in 9813 (Turleau et al 1974 ;Mulcahy and Jenkyn 1975;Penchaszadeh and Coco :1975;Schinzel et al 1975;StengelRutkowski 1976;Subrt et al 1976;Tenconi 1976;Wyandt et a?. 1976;Gripenberg et al 1977;:Lin et al 1977;Preto et al 1977), on 5 cases in 9g21 (Rott et al 1971;Rethore et al 1974;Mason et al 1975;Chiyo et al 1976;Baccichetti et al 1979), on 6 cases in 9822 (Schwanitz et al 1974;Centerwall et al 1975;Mulcahy and Jenkyn 1975;Centerwall et al 1976;Fuj ita et al 1976;Neu et al 1979), on 1 case in 9824 …”

Section: No 1]mentioning

confidence: 98%